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Journal Abstract Search

94 related items for PubMed ID: 27222084

  • 1. [Autosomal recessive GTPCH 1 deficiency: the importance of the analysis of neurotransmitters in cerebrospinal fluid].
    Moreno-Medinilla EE, Mora-Ramirez MD, Calvo-Medina R, Martinez-Anton J.
    Rev Neurol; 2016 Jun 01; 62(11):502-6. PubMed ID: 27222084
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  • 3. Guanosine triphosphate cyclohydrolase I deficiency: a rare cause of hyperphenylalaninemia.
    Coşkun T, Karagöz T, Kalkanoğlu S, Tokatli A, Ozalp I, Thöny B, Blau N.
    Turk J Pediatr; 1999 Jun 01; 41(2):231-7. PubMed ID: 10770663
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  • 10. GTP-Cyclohydrolase I deficiency presenting as malignant hyperphenylalaninemia, recurrent hyperthermia and progressive neurological dysfunction in a South Asian child - a case report.
    Dayasiri KC, Suraweera N, Nawarathne D, Senanayake UE, Dayanath BKTP, Jasinge E, Weerasekara K.
    BMC Pediatr; 2019 Jun 15; 19(1):199. PubMed ID: 31202265
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  • 11. [Dopa-responsive dystonia: clinical, genetic, and biochemical studies].
    Furukawa Y.
    Rinsho Shinkeigaku; 2006 Jan 15; 46(1):19-34. PubMed ID: 16541791
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  • 12. Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency.
    Brüggemann N, Spiegler J, Hellenbroich Y, Opladen T, Schneider SA, Stephani U, Boor R, Gillessen-Kaesbach G, Sperner J, Klein C.
    Arch Neurol; 2012 Aug 15; 69(8):1071-5. PubMed ID: 22473768
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  • 15. The neurobiology of tetrahydrobiopterin biosynthesis: a model for regulation of GTP cyclohydrolase I gene transcription within nigrostriatal dopamine neurons.
    Kapatos G.
    IUBMB Life; 2013 Apr 15; 65(4):323-33. PubMed ID: 23457032
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  • 16. GTP-cyclohydrolase deficiency responsive to sapropterin and 5-HTP supplementation: relief of treatment-refractory depression and suicidal behaviour.
    Pan L, McKain BW, Madan-Khetarpal S, Mcguire M, Diler RS, Perel JM, Vockley J, Brent DA.
    BMJ Case Rep; 2011 Jun 09; 2011():. PubMed ID: 22691588
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  • 18. Gene transfer of human guanosine 5'-triphosphate cyclohydrolase I restores vascular tetrahydrobiopterin level and endothelial function in low renin hypertension.
    Zheng JS, Yang XQ, Lookingland KJ, Fink GD, Hesslinger C, Kapatos G, Kovesdi I, Chen AF.
    Circulation; 2003 Sep 09; 108(10):1238-45. PubMed ID: 12925450
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